Canonical Allele Identifier: CA579075512

Gene: KCNH2

Linked Data

• dbSNP Id: rs1173213072
• gnomAD v2: 7-150655624-T-TCGCGAGCAG
• gnomAD v3: 7-150958536-T-TCGCGAGCAG
• gnomAD v4: 7-150958536-T-TCGCGAGCAG
• MyVariant Identifiers: chr7:g.150655624_150655625insCGCGAGCAG (hg19) ; chr7:g.150958536_150958537insCGCGAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958538_150958546dup , CM000669.2:g.150958538_150958546dup	GRCh38
NC_000007.13:g.150655626_150655634dup , CM000669.1:g.150655626_150655634dup	GRCh37
NC_000007.12:g.150286559_150286567dup	NCBI36
NG_008916.1:g.24382_24390dup , LRG_288:g.24382_24390dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-43_1306-35dup
ENST00000262186.10:c.473-43_473-35dup MANE Select	ENSP00000262186.5:n.473-43_473-35dup
ENST00000262186.9:c.473-43_473-35dup	ENSP00000262186.5:n.473-43_473-35dup
ENST00000430723.4:c.235-153_235-145dup	ENSP00000387657.4:n.235-153_235-145dup
ENST00000532957.5:n.696-43_696-35dup
NM_000238.3:c.473-43_473-35dup , LRG_288t1:c.473-43_473-35dup	NP_000229.1:n.473-43_473-35dup
NM_172056.2:c.473-43_473-35dup , LRG_288t2:c.473-43_473-35dup	NP_742053.1:n.473-43_473-35dup
XM_011516185.1:c.173-43_173-35dup	XP_011514487.1:n.173-43_173-35dup
XM_011516186.1:c.473-43_473-35dup	XP_011514488.1:n.473-43_473-35dup
XM_011516185.2:c.173-43_173-35dup	XP_011514487.1:n.173-43_173-35dup
XM_011516186.3:c.473-43_473-35dup	XP_011514488.1:n.473-43_473-35dup
XM_017012195.1:c.323-43_323-35dup	XP_016867684.1:n.323-43_323-35dup
XM_017012196.1:c.296-43_296-35dup	XP_016867685.1:n.296-43_296-35dup
NM_000238.4:c.473-43_473-35dup MANE Select	NP_000229.1:n.473-43_473-35dup